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Article

Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel ACP5 Variant and Literature Review.

Genes - 29 Mar 2026

Li Wei, Li Jinrong, Jiang Decheng, Fu Xiao, Li Ping

Abstract excerpt

INTRODUCTION: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is a rare autosomal recessive disorder caused by biallelic variants in the tartrate-resistant acid phosphatase 5 (ACP5) and characterized by variable skeletal, immunological, and neurological manifestations. Because early skeletal abnormalities may be subtle, diagnosis can be challenging in infancy. MATERIALS AND METHODS: We conducted a...

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Identifiers

PMID: 42074507
DOI: 10.3390/genes17040390
PMCID: PMC13116650

Genes

ACP5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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